ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del)

dbSNP: rs752076060
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002504405 SCV002815906 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542916 SCV003245759 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-11-04 criteria provided, single submitter clinical testing This variant, c.2974_2976del, results in the deletion of 1 amino acid(s) of the RPGRIP1L protein (p.Pro992del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752076060, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004528446 SCV004108022 uncertain significance RPGRIP1L-related disorder 2022-10-18 criteria provided, single submitter clinical testing The RPGRIP1L c.2974_2976delCCT variant is predicted to result in an in-frame deletion (p.Pro992del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.092% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-53672305-CAGG-C), which is likely too common for an undocumented disease-causing variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Breakthrough Genomics, Breakthrough Genomics RCV004692397 SCV005194381 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001279145 SCV001466227 uncertain significance Familial aplasia of the vermis 2020-08-14 no assertion criteria provided clinical testing

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